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Toward the functional interpretation of somatic structural variations: bulk- and single-cell approaches
Dohun Yi1, Jin-Wu Nam1,2,3,4, Hyobin Jeong1,3,4
1Department of Life Science, College of Natural Sciences, Hanyang University, Wangsimni-ro 222, Seongdong-gu, Seoul 04763, Republic of Korea.
Briefings in Bioinformatics
|August 17, 2023
Summary
This review covers advances in detecting structural variants (SVs) using whole-genome sequencing (WGS). It compares bulk and single-cell methods for identifying these genomic changes in health and disease.
Area of Science:
- Genomics
- Cancer Biology
- Bioinformatics
Background:
- Structural variants (SVs) are genomic rearrangements accumulating during cell aging and are crucial in cancer development.
- Somatic SVs, though important, are challenging to detect, limiting their study compared to single-nucleotide variants.
Conclusions:
- Advances in WGS-based methods enhance somatic SV detection at both tissue and single-cell levels.
- Understanding somatic SVs is critical for insights into health and disease, particularly cancer.
- Integrating SV data with functional genomics offers promising avenues for future research.
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